Publications by authors named "Vanessa Yurie Nozaki de Arruda"
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Caio Robledo D'Angioli Costa Quaio Caroline Monaco Moreira Gil Monteiro Novo-Filho Patricia Rossi Sacramento-Bobotis Michele Groenner Penna Vanessa Yurie Nozaki de Arruda
Am J Med Genet C Semin Med Genet
December 2020
Article Synopsis
- Rare diseases, often genetic, were studied in 500 patients using exome sequencing (ES), resulting in a diagnostic yield of 31.6% with 164 primary findings.
- The majority of findings were from autosomal dominant conditions (61.6%), with significant rates of successful diagnosis in younger children and those with specific conditions like gastrointestinal diseases.
- Notably, 15.6% of patients had potential for improved care through targeted therapies, and secondary findings in 37 patients could increase life expectancy by over 123 years for the cohort combined.